Variant #0000116156 (NC_000001.10:g.241676961T>G, FH(NM_000143.3):c.320A>C)
Individual ID |
00072599 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.241676961T>G |
DNA change (hg38) |
g.241513661T>G |
Published as |
Asn64Thr, N64T |
ISCN |
- |
DB-ID |
FH_000017 See all 9 reported entries |
Variant remarks |
UK, not found in 300 chrom |
Reference |
PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Jean-Pierre Bayley |
Database submission license |
Creative Commons Attribution-NonCommercial 4.0 International |
Created by |
Jean-Pierre Bayley |

Variant on transcripts
Screenings
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